GeneSTAR is a family-based study by design with
ascertainment of healthy siblings from a
documented early onset-CAD proband identified at the time of hospitalization at
any of 10 Baltimore area Hospitals. The initial study included only healthy 30-59
year old siblings of probands, but was later expanded to include adult (≥ 21)
year old offspring of the siblings and probands, co-parents of the offspring,
probands, and additional siblings. Since the study inception, incident cases
have occurred and genetic data and DNA samples may be available for those
affected family members.
A full pedigree file is maintained in standard format, with columns
indicating family number, individual number, father, mother, sex, and identical
twin status. Detailed pedigree information is maintained separately for each
family in the Cyrillic pedigree software (Chapman CJ. A visual interface to
compute programs for linkage analysis. Am J Med Genet 1990; 36(2):155-160), and
visualized for the entire cohort using the Cranefoot pedigree software (Mäkinen
V-P et al. High-throughput pedigree drawing. Eur J Hum Genet 2005; 13:987-9).
These files contain limited historical data, largely based on in person
assessment of family history. Family histories are verified by other family
members to assure accuracy in reporting.
The original sibling cohort consists of 1656 participants from 855 families.
The offspring cohort consists of 1306 individuals from 437 families, and there
are 340 co-parents. The total cohort consists (including those who were
consented and are since deceased) of 3949 total individuals, 889 total families.
Of the total,3801 have DNA available, and 3191 have undergone a GWAS. Of the total, 1786 from 415 families have
undergone whole genome sequencing. Of
the total sample, there are 1446 African Americans, 2468 European Americans,
and 35 others. There are numerous
sibling pairs in both generations, parent offspring relationships, avuncular,
and cousin relationships. The pedigrees at this juncture are very broad.
Kindred status was verified genetically. Full and half siblings exist in
our pedigrees and are identifiable. Files are available upon request and are
also available for various portions of the study through dbGAP.